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Forum: Genetic Disorders

A genetic disorder is an abnormality in the DNA of an individual. Abnormalities can involve the addition or subtraction of entire chromosomes or be as small as a single-base mutation in just one gene. This is the forum for discussing anything related to genetic disorders

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Achromatopsia is a hereditary and non-progressive visual disorder characterized by decreased light sensitivity vision and the absence of color vision. This is the forum for discussing anything related to Achromatopsia

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Acid maltase deficiency (AMD) is the excessive accumulation of glycogen within lysosome-derived vacuoles because of the partial or complete deficiency of alpha-glucosidase (the lysosomal enzyme) the enzyme responsible for breaking down glycogen and converting it into glucose. This is the forum for discussing anything related to this health condition

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Adrenoleukodystrophy is the brain disorder which destroys myelin the protective sheath surrounding the brain's neurons the nerve cells which allow us to control the muscles and to think. This is the forum for discussing anything related to this health condition

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Alpha 1-antitrypsin deficiency is the genetic disorder responsible for the defective production of alpha 1-antitrypsin (A1AT) leading to decreased A1AT activity in the lungs and blood and deposition of excessive abnormal A1AT protein in the cells of the liver. This is the forum for discussing anything related to this health condition

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Androgen insensitivity syndrome (AIS) is the condition in which a genetically male individual (who has one X and one Y chromosome) is resistant to androgens (male hormones) thus though having the genetic makeup of a man has some or all of the physical traits of a woman. This is the forum for discussing anything related to this health condition

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Apert syndrome is the premature fusion of craniosynostosis (certain skull bones) thus preventing the normal growth of the skull and affects the shape of the face and the head. This is the forum for discussing anything related to Apert Syndrome

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Arrhythmogenic Right Ventricular Dysplasia is when the muscle tissue in the right ventricle of the heart dies and is replaced with fat and/or fibrous tissue thus disrupting the electrical signals of the heart and causes arrhythmias. This is the forum for discussing anything related to this health condition

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Ataxia telangiectasia (A-T) is a neurodegenerative inherited rare disease which causes severe disability because of progressive difficulty with coordinating movements (ataxia) beginning in early childhood generally before the age of 5. This is the forum for discussing anything related to this health condition

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Barth syndrome is the condition characterized by a weakened and an enlarged heart (dilated cardiomyopathy) skeletal myopathy (weakness in muscles used for movement) neutropenia (recurrent infections caused by small numbers of white blood cells) and short stature. This is the forum for discussing anything related to Barth Syndrome

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Canavan disease is an inherited genetic abnormality caused by the lack of an essential enzyme leading to the deterioration of myelin (the white matter) in the brain making the proper transmission of nerve signals to be prevented. This is the forum for discussing anything related to this health condition

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Cystic Fibrosis is a hereditary disorder which affects the exocrine glands making abnormally thick mucus to be produced leading to the blockage of the intestines pancreatic ducts and bronchi and often causing respiratory infection. This is the forum for discussing anything related to this health condition

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Dercum's disease is characterized by painful multiple growths consisting of lipomas (fatty tissue). The growths generally take place on the trunk the upper legs and upper arms and are found subcutaneously (just below the skin). This is the forum for discussing anything related to this health condition

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Fragile X syndrome is a genetic condition causing various developmental problems such as cognitive impairment and learning disabilities - delay in the development of speech and language at the age of 2. This is the forum for discussing anything related to this health condition

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Galactosemia is the inability of the body to break down galactose (a food sugar found in milk and other dairy products). The body breaks down lactose into glucose and galactose and makes use of these sugars for energy. This is the forum for discussing anything related to this health condition

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Gaucher disease is the autosomal recessive inherited metabolism disorder where lipid (a type of fat), known as glucocerebroside cannot be degraded adequately. This is the forum for discussing anything related to this health condition

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Huntington disease is a progressive disorder of the brain, leading to emotional problems, uncontrolled movements, and loss of thinking ability (cognition). This is the forum for discussing anything related to this health condition

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Hurler syndrome, also called mucopolysaccharidosis type I (MPS I), is a genetic disorder leading to the glycosaminoglycans buildup because of a alpha-L iduronidase deficiency. This is the forum for discussing anything related to this health condition

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Hypophosphatasia is a sometimes fatal and rare metabolic bone disease, with heterogeneous clinical symptoms such as milder, progressive osteomalacia later in life, and rapidly fatal perinatal variant, with respiratory compromise and profound skeletal hypomineralization. This is the forum for discussing anything related to this health condition

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Klinefelter syndrome is the genetic disorder where a boy is born with more than one X chromosomes. Most males have one X and one Y chromosome. Having extra X chromosomes leads to having certain physical traits unusual for males. This is the forum for discussing anything related to this health condition

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Krabbe disease is an inherited disorder which damages the myelin (protective coating) of nerve cells throughout the nervous system and inside the brain. This is the forum for discussing anything related to this health condition

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Langer-Giedion syndrome is the condition responsible for distinctive facial features and bone abnormalities. Patients have benign (multiple noncancerous) bone tumors known as exostoses. This is the forum for discussing anything related to this health condition

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Leukodystrophies are the rare genetic disorders affecting the central nervous system by disrupting the maintenance or growth of the myelin sheath insulating the nerve cells. Usually, the disorders tend to get worse throughout the patient's life. This is the forum for discussing anything related to this health condition

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Long QT syndrome (LQTS) is the disorder of the electrical activity of the heart, leading to uncontrollable, dangerous, sudden arrhythmias (ah-RITH-me-ahs) in response to stress or exercise. This is the forum for discussing anything related to this health condition

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Leukodystrophies are rare genetic disorders which affect the central nervous system by disrupting the maintenance or growth of the myelin sheath which helps in insulating the nerve cells. As these are progressive disorders, it means that they tend to get worse throughout the patient's life. This forum is for discussing all issues related to Leukodystrophies

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Marfan syndrome is the genetic disorder affecting the connective tissue of the body. All the cells, organs and tissues of the body are held together by connective tissue, thus playing an important role in the proper growth and development of the body. This is the forum for discussing anything related to this health condition

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Moebius syndrome is the neurological condition primarily affecting the muscles controlling eye movement and facial expression. One of the signs and symptoms is paralysis or weakness of the facial muscles. This is the forum for discussing anything related to this health condition

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Mucopolysaccharidoses (MPS) is a genetic lysosomal storage diseases (LSD) caused by the inability of the body to produce specific enzymes. This is the forum for discussing anything related to this health condition

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Nail–patella syndrome (NPS) is the genetic disorder responsible for poorly developed, small nails and kneecaps, though other parts of the body, such as the chest, elbows and hips can also be affected. This is the forum for discussing anything related to this health condition

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Nephrogenic diabetes insipidus (NDI) is the condition where the kidney tubules are not responding to the body's antidiuretic hormone (ADH). Usually, ADH tells the kidneys to make more concentrated urine. This is the forum for discussing anything related to this health condition

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Neurofibromatosis is the genetic disorder which causes a disturbance in the growth of the cells in the nervous system, causing the formation of tumors on nerve tissue. These tumors may develop anywhere in your nervous system, including in your brain, spinal cord and nerves. This is the forum for discussing anything related to this health condition

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Niemann-Pick disease is the group of diseases inherited in families, in which lipids (fatty substances) collect in the cells of the liver, spleen and brain. This is the forum for discussing anything related to this health condition

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Porphyria is the hereditary and rare disease in which the hemoglobin in the blood is abnormally metabolized. The body excretes porphyrins in the urine, becoming dark; other symptoms are extreme skin sensitivity to light, and mental disturbances. This is the forum for discussing anything related to this health condition

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Prader-Willi Syndrome is the condition is characterized by feeding difficulties, weak muscle tone (hypotonia), delayed development and poor growth. From childhood, the individual affected develop an insatiable appetite, leading to obesity and hyperphagia (chronic overeating). This is the forum for discussing anything related to this health condition

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Progeria is the progressive and extremely rare genetic disorder which causes a child to age rapidly, beginning in the first 2 years of life. This is the forum for discussing anything related to this health condition

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Proteus syndrome is the overgrowth of the skin, bones and other tissues. The tissues and organs the disease affects grow out of proportion to the rest of the body. The overgrowth usually affects the left and right sides of the body differently, meaning that it is asymmetric. This is the forum for discussing anything related to this health condition

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Rett syndrome is a non-inherited and rare genetic postnatal neurological disorder that causes severe impairments, occurring almost exclusively in girls, affecting nearly every aspect of the life of the child, such as the ability to walk, speak, eat, and even breathe easily. This is the forum for discussing anything related to this health condition

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Rubinstein–Taybi syndrome (RTS) also called Rubinstein syndrome or broad thumb-hallux syndrome, is the condition characterized by distinctive facial features, moderate to severe learning difficulties, short stature, broad thumbs and first toes. This is the forum for discussing anything related to this health condition

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Sanfilippo syndrome is the inherited metabolism disorder which causes the inability of the body to do a proper breakdown of long chains of sugar molecules. This is the forum for discussing anything related to this health condition

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Shwachman Syndrome is a rare congenital disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, short stature and skeletal abnormalities. This is the forum for discussing anything related to this health condition

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Smith–Magenis Syndrome (SMS) is the developmental disorder affecting many parts of the body, leading to major features such as distinctive facial features, mild to moderate intellectual disability, behavioral problems and sleep disturbances. This is the forum for discussing anything related to this health condition

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Stickler syndrome is the group of hereditary conditions characterized by eye abnormalities, a distinctive facial appearance, joint problems and hearing loss. This is the forum for discussing anything related to this health condition

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Tay-Sachs is the absence of hexosaminidase-A (Hex-A), a vital enzyme, leading to the presence of lipid, a fatty substance. GM2 ganglioside abnormally accumulates in cells, especially in the brain nerve cells, damaging the cells after some time. This is the forum for discussing anything related to this health condition

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Treacher Collins syndrome (TCS), also called mandibulofacial dysostosis or Treacher Collins–Franceschetti syndrome, is a rare autosomal dominant congenital disorder that causes craniofacial deformities, such as absent cheekbones. This is the forum for discussing anything related to this health condition

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Tuberous sclerosis is the multi-system and rare genetic disease causing the growth of benign tumors in the brain and on other vital organs such as the heart, kidneys, eyes, skin and lungs. This is the forum for discussing anything related to this health condition

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Turner syndrome is the chromosomal condition responsible for altering development in females, making them shorter than average and generally are infertile (not able to conceive a child) because of the inabilities of the ovaries to function properly. This is the forum for discussing anything related to this health condition

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Urea Cycle Disorder is the mutation-caused genetic disorder that results in a deficiency of 1 of the 6 enzymes in the urea cycle. The enzymes help in removing ammonia from the blood stream. This is the forum for discussing anything related to this health condition

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Von Hippel-Lindau syndrome (VHL) is a hemangioblastomas-associated hereditary condition, causing blood vessel tumors of the brain, eye and spinal cord. This is the forum for discussing anything related to this health condition

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Waardenburg syndrome is the group of genetic conditions responsible for the loss of hearing and changes in coloring of the hair, skin (pigmentation), and eyes. Although most of the people with this condition have normal hearing, profound or moderate hearing loss can be experienced in one or both ears. This is the forum for discussing anything related to this health condition

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Williams syndrome (WS) is the rare neurodevelopmental disorder characterized by: an "elfin" or distinctive facial appearance, along with a low nasal bridge; a demeanor which is unusually cheerful, and ease with strangers; strong language skills with developmental delay. This is the forum for discussing anything related to this health condition

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Wilson's disease is a recessive, autosomal genetic disorder responsible for the accumulation of copper in tissues; manifesting as psychiatric or neurological symptoms and liver disease. This is the forum for discussing anything related to this health condition